Canonical Allele Identifier: CA210679
Gene: RXFP2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.31777398A>C
GRCh37 chr13:g.32351535A>C
Revel Score:
ENST00000380314 0.219
ENST00000298386 (MANE Select) 0.219
gnomAD v2:
13:32351535 A / C
gnomAD v3:
13:31777398 A / C
gnomAD v4:
chr13-31777398-A-C
Joint Max Group AF 0.00591126 (NFE)
Genomes Max Group AF 0.00828209 (AMR)
Exomes Max Group AF 0.00592781 (NFE)
ClinVar RCV:
RCV000004376
RCV003389746
ClinVar Variation:
4159
dbSNP:
121918303
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31777398A>C , CM000675.2:g.31777398A>C GRCh38
NC_000013.10:g.32351535A>C , CM000675.1:g.32351535A>C GRCh37
NC_000013.9:g.31249535A>C NCBI36
NG_015819.1:g.42857A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298386.7:c.664A>C MANE Select ENSP00000298386.2:p.Thr222Pro
ENST00000298386.6:c.664A>C ENSP00000298386.2:p.Thr222Pro
ENST00000380314.2:c.664A>C ENSP00000369670.1:p.Thr222Pro
NM_001166058.1:c.664A>C NP_001159530.1:p.Thr222Pro
NM_130806.3:c.664A>C NP_570718.1:p.Thr222Pro
XM_011534918.1:c.664A>C XP_011533220.1:p.Thr222Pro
NM_130806.4:c.664A>C NP_570718.1:p.Thr222Pro
XM_017020389.1:c.664A>C XP_016875878.1:p.Thr222Pro
NM_130806.5:c.664A>C MANE Select NP_570718.1:p.Thr222Pro
NM_001166058.2:c.664A>C NP_001159530.1:p.Thr222Pro
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